Incidental Mutation 'R8158:Oas2'
ID |
633356 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oas2
|
Ensembl Gene |
ENSMUSG00000032690 |
Gene Name |
2'-5' oligoadenylate synthetase 2 |
Synonyms |
2'-5' oligoadenylate synthetase-like 11, Oasl11 |
MMRRC Submission |
067584-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R8158 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
120868398-120887918 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 120887838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044833]
[ENSMUST00000053909]
[ENSMUST00000081491]
[ENSMUST00000165820]
|
AlphaFold |
E9Q9A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044833
|
SMART Domains |
Protein: ENSMUSP00000035588 Gene: ENSMUSG00000032661
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
159 |
341 |
6.3e-83 |
PFAM |
Pfam:OAS1_C
|
610 |
795 |
3.1e-78 |
PFAM |
Pfam:NTP_transf_2
|
831 |
920 |
4.5e-11 |
PFAM |
Pfam:OAS1_C
|
954 |
1136 |
9e-85 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000053909
AA Change: M1V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000060082 Gene: ENSMUSG00000032690 AA Change: M1V
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
Pfam:OAS1_C
|
190 |
378 |
5.6e-75 |
PFAM |
Pfam:NTP_transf_2
|
412 |
516 |
4e-9 |
PFAM |
Pfam:OAS1_C
|
533 |
724 |
3.2e-86 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000081491
AA Change: M1V
|
SMART Domains |
Protein: ENSMUSP00000080209 Gene: ENSMUSG00000032690 AA Change: M1V
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
Pfam:OAS1_C
|
191 |
376 |
1.9e-77 |
PFAM |
Pfam:NTP_transf_2
|
412 |
516 |
1.3e-10 |
PFAM |
Pfam:OAS1_C
|
534 |
722 |
2.6e-87 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165820
|
SMART Domains |
Protein: ENSMUSP00000125873 Gene: ENSMUSG00000032661
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
1 |
130 |
3.8e-53 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] PHENOTYPE: In nursing mothers, homozygous knockout (by a point mutation in a critical domain) results in a failure of the alveoli to expand and a failure to lactate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
A |
1: 156,469,639 (GRCm39) |
S968T |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,655,655 (GRCm39) |
D608G |
probably benign |
Het |
Adgb |
C |
T |
10: 10,254,478 (GRCm39) |
V1162M |
probably benign |
Het |
Agrn |
A |
G |
4: 156,258,346 (GRCm39) |
V1040A |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,626,741 (GRCm39) |
T327S |
possibly damaging |
Het |
Apaf1 |
C |
T |
10: 90,895,520 (GRCm39) |
C426Y |
probably benign |
Het |
Bsn |
T |
C |
9: 107,987,232 (GRCm39) |
D2840G |
unknown |
Het |
Camsap1 |
A |
T |
2: 25,834,440 (GRCm39) |
C406* |
probably null |
Het |
Cbr2 |
A |
T |
11: 120,621,123 (GRCm39) |
M158K |
probably damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,091,192 (GRCm39) |
S239P |
probably benign |
Het |
Clnk |
C |
A |
5: 38,952,254 (GRCm39) |
|
probably null |
Het |
Csad |
T |
C |
15: 102,086,197 (GRCm39) |
M445V |
probably damaging |
Het |
Dnajb7 |
T |
A |
15: 81,291,600 (GRCm39) |
N246Y |
probably damaging |
Het |
Dok6 |
T |
C |
18: 89,492,071 (GRCm39) |
I169V |
probably benign |
Het |
H2bc14 |
T |
C |
13: 21,906,631 (GRCm39) |
Y122H |
probably benign |
Het |
Il1f10 |
T |
G |
2: 24,181,267 (GRCm39) |
I11R |
possibly damaging |
Het |
Irs1 |
C |
T |
1: 82,267,254 (GRCm39) |
V321M |
probably damaging |
Het |
Itga9 |
T |
C |
9: 118,706,211 (GRCm39) |
F938L |
probably damaging |
Het |
Kif7 |
T |
C |
7: 79,354,442 (GRCm39) |
D781G |
probably damaging |
Het |
Klhl41 |
A |
T |
2: 69,501,505 (GRCm39) |
N322I |
probably damaging |
Het |
Krtap31-1 |
T |
G |
11: 99,798,901 (GRCm39) |
C35G |
possibly damaging |
Het |
Lsm11 |
A |
T |
11: 45,824,824 (GRCm39) |
D234E |
probably benign |
Het |
Med6 |
T |
C |
12: 81,620,677 (GRCm39) |
K223R |
probably benign |
Het |
Mfsd4b2 |
G |
A |
10: 39,798,064 (GRCm39) |
T97I |
probably benign |
Het |
Mrgpra1 |
A |
T |
7: 46,985,204 (GRCm39) |
C158* |
probably null |
Het |
Nr2e1 |
T |
C |
10: 42,458,881 (GRCm39) |
T8A |
probably benign |
Het |
Or13a27 |
T |
C |
7: 139,925,162 (GRCm39) |
I247V |
probably benign |
Het |
Or14a260 |
T |
A |
7: 85,984,885 (GRCm39) |
I240F |
probably benign |
Het |
Or1e33 |
T |
A |
11: 73,738,697 (GRCm39) |
M85L |
probably benign |
Het |
Or8k17 |
T |
C |
2: 86,066,504 (GRCm39) |
Y218C |
probably damaging |
Het |
Or8w1 |
T |
A |
2: 87,465,233 (GRCm39) |
N286I |
probably damaging |
Het |
Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
Phf2 |
T |
C |
13: 48,971,236 (GRCm39) |
T479A |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,942,232 (GRCm39) |
N1516S |
probably benign |
Het |
Qrich1 |
C |
A |
9: 108,433,236 (GRCm39) |
T622K |
probably damaging |
Het |
Rasip1 |
A |
G |
7: 45,281,943 (GRCm39) |
K482R |
probably damaging |
Het |
Rgl2 |
T |
C |
17: 34,155,918 (GRCm39) |
F698L |
probably benign |
Het |
Scarb1 |
T |
C |
5: 125,380,201 (GRCm39) |
D124G |
probably benign |
Het |
Sclt1 |
A |
G |
3: 41,625,917 (GRCm39) |
I350T |
probably benign |
Het |
Sec23ip |
T |
G |
7: 128,369,364 (GRCm39) |
V696G |
probably damaging |
Het |
Serpina1e |
G |
T |
12: 103,917,354 (GRCm39) |
T105K |
probably benign |
Het |
Sin3a |
A |
G |
9: 57,020,828 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
A |
G |
5: 53,218,182 (GRCm39) |
T154A |
probably damaging |
Het |
Slc9a3 |
T |
C |
13: 74,303,241 (GRCm39) |
L178P |
probably damaging |
Het |
Smarca2 |
A |
C |
19: 26,659,448 (GRCm39) |
I913L |
probably benign |
Het |
Spaca7b |
T |
A |
8: 11,715,056 (GRCm39) |
D46V |
probably damaging |
Het |
Tcea3 |
G |
A |
4: 136,001,027 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
C |
10: 78,584,509 (GRCm39) |
Q338E |
probably benign |
Het |
Tmcc1 |
T |
A |
6: 116,020,435 (GRCm39) |
H339L |
|
Het |
Trpm2 |
G |
T |
10: 77,783,731 (GRCm39) |
H247Q |
probably damaging |
Het |
Tyr |
T |
A |
7: 87,121,724 (GRCm39) |
D356V |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,349,888 (GRCm39) |
C565S |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,213,636 (GRCm39) |
N74T |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,973,260 (GRCm39) |
Y375H |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,675,353 (GRCm39) |
D2134E |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,464,010 (GRCm39) |
Y1414* |
probably null |
Het |
Zfp282 |
A |
T |
6: 47,867,626 (GRCm39) |
E267D |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,096 (GRCm39) |
C269S |
possibly damaging |
Het |
Zp3 |
T |
A |
5: 136,014,418 (GRCm39) |
S246T |
probably benign |
Het |
|
Other mutations in Oas2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Oas2
|
APN |
5 |
120,876,428 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00784:Oas2
|
APN |
5 |
120,876,428 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01388:Oas2
|
APN |
5 |
120,886,657 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01643:Oas2
|
APN |
5 |
120,874,252 (GRCm39) |
splice site |
probably benign |
|
IGL01660:Oas2
|
APN |
5 |
120,879,288 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02346:Oas2
|
APN |
5 |
120,874,153 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02403:Oas2
|
APN |
5 |
120,886,815 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03297:Oas2
|
APN |
5 |
120,873,150 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0149:Oas2
|
UTSW |
5 |
120,876,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R0344:Oas2
|
UTSW |
5 |
120,881,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:Oas2
|
UTSW |
5 |
120,876,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R0387:Oas2
|
UTSW |
5 |
120,883,737 (GRCm39) |
splice site |
probably benign |
|
R0465:Oas2
|
UTSW |
5 |
120,873,120 (GRCm39) |
missense |
probably damaging |
0.99 |
R2100:Oas2
|
UTSW |
5 |
120,883,740 (GRCm39) |
critical splice donor site |
probably null |
|
R2324:Oas2
|
UTSW |
5 |
120,881,339 (GRCm39) |
missense |
probably benign |
0.43 |
R2496:Oas2
|
UTSW |
5 |
120,886,682 (GRCm39) |
missense |
probably benign |
0.00 |
R4357:Oas2
|
UTSW |
5 |
120,876,734 (GRCm39) |
critical splice donor site |
probably null |
|
R4466:Oas2
|
UTSW |
5 |
120,887,667 (GRCm39) |
missense |
probably damaging |
0.99 |
R4472:Oas2
|
UTSW |
5 |
120,879,220 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4632:Oas2
|
UTSW |
5 |
120,871,546 (GRCm39) |
missense |
probably benign |
0.34 |
R4714:Oas2
|
UTSW |
5 |
120,871,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R4824:Oas2
|
UTSW |
5 |
120,876,411 (GRCm39) |
missense |
probably benign |
0.32 |
R4872:Oas2
|
UTSW |
5 |
120,876,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R5629:Oas2
|
UTSW |
5 |
120,876,516 (GRCm39) |
nonsense |
probably null |
|
R6351:Oas2
|
UTSW |
5 |
120,886,603 (GRCm39) |
missense |
probably benign |
|
R6463:Oas2
|
UTSW |
5 |
120,873,046 (GRCm39) |
missense |
probably null |
1.00 |
R6488:Oas2
|
UTSW |
5 |
120,876,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R6787:Oas2
|
UTSW |
5 |
120,876,863 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6945:Oas2
|
UTSW |
5 |
120,874,204 (GRCm39) |
missense |
probably benign |
0.00 |
R7353:Oas2
|
UTSW |
5 |
120,876,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7459:Oas2
|
UTSW |
5 |
120,887,775 (GRCm39) |
missense |
unknown |
|
R7634:Oas2
|
UTSW |
5 |
120,871,293 (GRCm39) |
missense |
probably benign |
0.18 |
R7639:Oas2
|
UTSW |
5 |
120,883,751 (GRCm39) |
nonsense |
probably null |
|
R7958:Oas2
|
UTSW |
5 |
120,886,831 (GRCm39) |
missense |
probably benign |
0.00 |
R7968:Oas2
|
UTSW |
5 |
120,876,437 (GRCm39) |
missense |
probably benign |
0.38 |
R8915:Oas2
|
UTSW |
5 |
120,876,449 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9266:Oas2
|
UTSW |
5 |
120,887,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9428:Oas2
|
UTSW |
5 |
120,887,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCGCAATCTGCTTCAGAC -3'
(R):5'- AAGTTTAAGCTGGGGTGTCC -3'
Sequencing Primer
(F):5'- GCAATCTGCTTCAGACAGTTTTCG -3'
(R):5'- AGCTGCTGGGAAGTAACTCC -3'
|
Posted On |
2020-06-30 |